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hypotrichosis 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotrichosis 2

MONDO:0007805

Also known as:CDSN hypotrichosisHYPT2Spanish type hypotrichosis

Overview

Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene.

GeneticsAutosomal dominant · CDSN (chr 6)

ResearchLimited published research (4 articles)

Clinical Presentation

Features include always present findings: Sparse scalp hair. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	1	Abnormal nail morphology

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CDSN encodes corneodesmosin (529 aa). Important for the epidermal barrier integrity

Hypotrichosis 2 is associated with mutations in the CDSN gene on chromosome 6.

The CDSN protein participates in Keratinocyte of granulosum layer differentiates into corneocyte of corneum layer in interfollicular epidermis pathway.

CDSN is classified as a druggable target with score 2.6.

Diagnosis

Genetic testing for CDSN is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypotrichosis 2.

4 publications have been identified in PubMed for hypotrichosis 2. Research spans Case Report / Case Series (50%), Other (25%), and Clinical Trial Publication (25%).

Recent Publications

Lima-Galindo AA (2025). [PMID: 40436335](https://pubmed.ncbi.nlm.nih.gov/40436335/). *Actas Dermosifiliogr*. [Clinical Trial Publication]
Zhuang M (2024). [PMID: 39902296](https://pubmed.ncbi.nlm.nih.gov/39902296/). *Front Genet*. [Case Report / Case Series]
AlMudimeegh A (2024). [PMID: 39206379](https://pubmed.ncbi.nlm.nih.gov/39206379/). *JAAD Case Rep*. [Case Report / Case Series]
Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergol Select*. [Other]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 10:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:146520

GARD

Genetic and Rare Diseases Info Center

GARD:18093

Questions for Your Care Team

→Should I pursue genetic testing for CDSN, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hypotrichosis 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team